Details for Combination OLI1794

VARIANTS TPM1:c.644C>T, p.Ser215Leu in Heterozygous form; MYH7:c.2686G>A, p.Asp896Asn in Heterozygous form; MYH7:c.1571_1572delTCinsAA, p.Ile524Lys in Heterozygous form
GENE COMBINATION MYH7; TPM1
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY South Asian
OMIM IDS N.A.
DISEASES NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
REFERENCES 25607779
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
01


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